Tests during pregnancy Neural-tube-defect

The neural tube is a structure in the embryo, from which the spinal cord and the ceres are formed very early in the pregnancy. In case of a defect of the neural tube, the spine or the skull is not formed correctly. This creates an open spine (spins bifida) or an open skull (anencephaly). These disorders are also often called closure defects of the neural tube.

When there is an open back, this means that a number of vertebrae are not closed properly, a part of the spinal cord is not closed. Children with an open back are usually physically and often also mentally handicapped. When the baby is born with an open skull, it will almost always die at birth or very soon afterwards.

The cause of the open back and the open skull is not yet known. Sometimes there is a combination of hereditary and other factors, such as extremely one-sided nutrition or the use of certain medications during pregnancy, but usually there is no cause to indicate. What reduces the chance of a neural tube defect is taking extra folic acid in the period around fertilization, but that can not always prevent this condition.

Women who would like to become pregnant are advised to use a 0.5 mg folic acid tablet every day. These tablets are available without a prescription. Women who have previously been pregnant with a neural tube defect are advised to take a higher dose of folic acid when they want to become pregnant again. A doctor has to write a prescription for this.

Increased risk of neural tube defect:

  • An earlier child with a neural tube defect. The recurrence rate in a subsequent pregnancy is about 2 percent.
  • A neural tube defect in one of the parents. If one of the parents has a form of an open back, the chance of having a child with a closure defect is about 2 percent.
  • Neural tube defects in the family. In case of a neural tube defect in a brother, sister or parent of one of the partners there is about 0.5 to 1 percent chance of this condition for the child. If an open back or skull occurs in other family members (grandparents, aunts and uncles, nephews and nieces), there is no increased risk, except if the condition occurs with multiple family members.
  • Certain medications used during pregnancy are associated with an increased risk of neural tube failure. Examples are drugs that are used in case of falling disease (epilepsy) such as valproate and carbamazepine.
  • Women with diabetes (diabetes) have an increased risk of having a child with a neural tube defect or other birth defects, especially when there are high blood sugars in the beginning of the pregnancy.

The chance of having a child with a neural tube defect does not increase at the age of 36 years or older. This is in contrast to many other conditions.

Ultrasound examination
In general, an ultrasound examination is performed. Usually this research shows a closure defect very reliably. Often large and severe abnormalities are already visible with a gestational age of 12 weeks. With a gestational age of between 16 and 20 weeks, the smaller vertebral abnormalities of the back can also be determined. An ultrasound examination is usually very reliable, though it happens in rare cases that small abnormalities of the dorsal vertebrae are not seen.

Sometimes additional amniotic examination can be discussed, for example if the back is difficult to assess, or if there is a greater chance of an open back. A closed defect (this is an open back where the skin has grown over) can not be detected with amniocentesis.

Amniotic fluid research
The protein alphafoetoprotein (AFP) enters the amniotic fluid in small amounts in the urine of the child in every pregnant woman. When there is an open spine or open skull, more of this protein comes into the amniotic fluid. The amount of AFP is therefore greatly increased in the amniotic fluid and this is a clear indication of the possible presence of a neural tube defect.

Blood test
Usually the amount of AFP in the pregnant woman's blood is increased in case of a closure defect. For this reason, blood tests are sometimes done. AFP is also determined in the mother's blood as part of blood tests in the fourth month of pregnancy (the triple test). However, it is already known that blood tests generally give less reliable results than an ultrasound and amniotic examination.

Also see these information articles: · Tests during pregnancy · Amniocentesis · Anemia · Antibodies · Chorionic testing · Combination test · Group B Streptococcus · Hemoglobin · NIPT test · Triple test · Umbilical cord

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